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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies

Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

The genome-wide association study (GWAS) publications in the Catalog include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

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Notice: The updated Catalog content may now be searched at

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
[SNPs passing QC]
06/06/13 Verhoeven VJ
February 10, 2013
Nat Genet
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Refractive error 37,382 European ancestry individuals, 3,995 East Asian ancestry individuals, 2,273 Singaporean Malay ancestry individuals, 2,108 Singaporean Indian ancestry individuals NA View full set of 26 SNPs Illumina & Affymetrix
[2.5 million] (imputed)
15q14 GJD2 MIR1233-2 - GJD2 rs524952-A 0.48 1 x 10-15 .158 [0.12-0.2] unit decrease
10q21.1 BICC1 TFAM - BICC1 rs7084402-G 0.48 2 x 10-13 .108 [0.079-0.137] unit decrease
6q22.33 LAMA2 LAMA2 rs12205363-C intron 0.1 2 x 10-12 .235 [0.17-0.3] unit increase
12q13.2 RDH5 RDH5; BLOC1S1-RDH5 rs3138144-C intron;intron 0.48 4 x 10-12 .119 [0.086-0.152] unit increase
8q12.1 CHD7, TOX TOX - RNA5SP267 rs7837791-T 0.49 4 x 10-12 .106 [0.077-0.135] unit increase
10q23.33 CYP26A1 NIP7P1 - XRCC6P1 rs10882165-T 0.42 1 x 10-11 .107 [0.076-0.138] unit decrease
15q25.1 RASGRF1 RASGRF1 rs4778879-G intron 0.44 4 x 10-11 .102 [0.073-0.131] unit decrease
2q37.1 CHRNG, PRSS56 CHRNG rs1881492-T intron 0.22 5 x 10-11 .139 [0.098-0.18] unit decrease
17p12 SHISA6 SHISA6 rs2969180-A intron 0.36 7 x 10-11 .101 [0.072-0.13] unit decrease
2q37.1 PRSS56 ECEL1 - PRSS56 rs1656404-A 0.21 8 x 10-11 .153 [0.11-0.20] unit decrease

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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015